Varaico: Literature-Extracted Genetic Variants

ALMS1

603 papers

RefSeq Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formati...

Pfam Domains

ALMS_repeataa 539–585UCSCAlstrom syndrome repeat

ALMS_repeataa 586–632UCSCAlstrom syndrome repeat

ALMS_repeataa 633–679UCSCAlstrom syndrome repeat

ALMS_repeataa 680–726UCSCAlstrom syndrome repeat

ALMS_repeataa 727–774UCSCAlstrom syndrome repeat

ALMS_repeataa 775–821UCSCAlstrom syndrome repeat

Gene Aliases

HGNC Name

ALMS1 centrosome and basal body associated protein

HGNC Alias Symbol

KIAA0328

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001378454.1

p.K1418delFs

c.4252delA

Surrounding Variants

1 paper

NM_015120.4

p.R1418fs

c.4252_4253fs

3 papers

NM_015120.4

p.R1418delFs

c.4252delC

NM_001378454.1

p.R1417delFs

c.4249delC

1 paper

NM_001378454.1

p.G1415V

c.4244G>T

1 paper

NM_015120.4

p.P1415_G1416ins4

c.4243_4247ins12

2 papers

NM_001378454.1

p.V1411L

c.4231G>C

2 papers

NM_015120.4

p.L1425*

c.4274T>A

NM_001378454.1

p.L1424*

c.4271T>A

2 papers

NM_015120.4

p.L1425*

c.4274T>G

NM_001378454.1

p.L1424*

c.4271T>G

1 paper

NM_015120.4

p.T1428insFs

c.4282dupA

1 paper

NM_015120.4

p.T1428fs

c.4282_4283fs

1 paper

NM_015120.4

p.V1409I

c.4225G>A

1 paper

NM_001378454.1

p.V1408L

c.4222G>C

2 papers

NM_015120.4

p.H1432_T1433delFs

c.4296_4299del4